ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.750A>C (p.Ser250=)

gnomAD frequency: 0.00003  dbSNP: rs765836082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518899 SCV001727675 benign Danon disease 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390935 SCV002672626 likely benign Cardiovascular phenotype 2021-02-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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